Wolman disease

Common Name(s)

Wolman disease, Lysosomal acid lipase deficiency

Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. The condition is severe and life-threatening, however new therapies, such as hematopoietic cell transplantation, have shown promise in improving the outlook of children with this disease.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wolman disease" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wolman disease" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Wolman disease" returned 13 free, full-text research articles on human participants. First 3 results:

Intragenic deletion as a novel type of mutation in Wolman disease.
 

Author(s): Teresa M Lee, Mariko Welsh, Sonia Benhamed, Wendy K Chung

Journal: Mol. Genet. Metab.. 2011 Dec;104(4):703-5.

 

Two clinically distinct disorders, Wolman disease (WD) and cholesteryl ester storage disease (CESD), are allelic autosomal recessive disorders caused by different mutations in lysosomal acid lipase (LIPA) which encodes for an essential enzyme involved in the hydrolysis of intracellular ...

Last Updated: 25 Nov 2011

Go To URL
Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice.
 

Author(s): Hong Du, Terri L Cameron, Stephen J Garger, Gregory P Pogue, Lee A Hamm, Earl White, Kathleen M Hanley, Gregory A Grabowski

Journal: J. Lipid Res.. 2008 Aug;49(8):1646-57.

 

Lysosomal acid lipase (LAL) is an essential enzyme that hydrolyzes triglycerides (TGs) and cholesteryl esters (CEs) in lysosomes. Genetic LAL mutations lead to Wolman disease (WD) and cholesteryl ester storage disease (CESD). An LAL-null (lal(-/-)) mouse model resembles human WD/CESD ...

Last Updated: 14 Jul 2008

Go To URL
Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.
 

Author(s): O Zschenker, N Jung, J Rethmeier, S Trautwein, S Hertel, M Zeigler, D Ameis

Journal: J. Lipid Res.. 2001 Jul;42(7):1033-40.

 

Wolman disease results from an inherited deficiency of lysosomal acid lipase (LAL; EC 3.1.1.13). This enzyme is essential for the hydrolysis of cholesteryl esters and triacylglycerols derived from endocytosed lipoproteins. Because of a complete absence of LAL activity, Wolman patients ...

Last Updated: 6 Jul 2001

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Wolman disease" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Wolman Disease
 

Status: Recruiting

Condition Summary: Wolman Disease; Acid Lipase Deficiency; Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type; Cholesterol Ester Storage Disease

 

Last Updated: 10 Mar 2015

Go to URL
Lysosomal Acid Lipase (LAL) Deficiency Registry
 

Status: Recruiting

Condition Summary: Lysosomal Acid Lipase Deficiency; Cholesterol Ester Storage Disease; Wolman Disease; Acid Cholesteryl Ester Hydrolase Deficiency, Type 2; Acid Lipase Deficiency; LIPA Deficiency

 

Last Updated: 2 Apr 2015

Go to URL
Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency
 

Status: Recruiting

Condition Summary: Lysosomal Acid Lipase Deficiency

 

Last Updated: 9 Jan 2015

Go to URL